Mutations in exon 5 of the phenylalanine hydroxylase (PAH) gene in patients with phenylketonuria
- VernacularTitle:苯丙酮尿症患者苯丙氨酸羟化酶基因外显子5突变鉴定
- Author:
Wuzhong YU
;
Donghui QIU
;
Fang SONG
- Publication Type:Journal Article
- Keywords:
phenylketonurias;
phenylalanine hydroxylase;
mutation;
exons
- From:
Medical Journal of Chinese People's Liberation Army
1982;0(03):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To determine the mutations in exon 5 of the phenylalanine hydroxylase(PAH)gene in phenylketonuria(PKU)patients from Xinjiang.Methods The mutations in exon 5 and flanking sequence of PAH gene were detected by SSCP analysis and DNA sequencing.Results Four different mutations,including missence mutation F161S,splice mutation IVS4-1G→A,missence mutation R158Q and nonsence mutation Y166X were identified in 74 chromosomes from 37 PKU patients,with relative frequencies of 4.1%,1.4%,1.4% and 1.4%,respectively.The frequency of mutant alleles in exon 5 is 8.1%.Considering the previous reports and the present study,R158Q was the most prevalent form in PKU patients from European and Latin American countries,IVS4-1G→A was a common mutation inoriental PKU populations.However,F161S and Y166X are two characteristic forms in Chinese.Conclusion Characteristics of PAH gene mutations and their distribution were showed in Chinese PKU population from Xinjiang,where is a hinterland located between China and Europe.The results give a clue that Xinjiang might be an ideal genetic resource repertoire for studying diversity of gene mutations,heterogeneity of PAH gene,human genesis and migration.
